ONTOLOGY REPORT - ANNOTATIONS


Term:tuberous sclerosis
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Accession:DOID:13515 term browser browse the term
Definition:Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Synonyms:exact_synonym: Bourneville Phacomatosis;   Bourneville Phakomatosis;   Bourneville Pringle Disease;   Bourneville Pringle's Disease;   Bourneville Syndrome;   Bourneville disease;   Bourneville's Disease;   Bourneville's Syndrome;   Bourneville-Pringles Disease;   Cerebral Scleroses;   Cerebral Sclerosis;   Epiloia;   Sclerosis Tuberosa;   TS;   TSC;   Tuberose Sclerosis;   adenoma sebaceum;   tuberous sclerosis complex;   tuberous sclerosis syndrome
 narrow_synonym: CORTICAL TUBERS
 primary_id: MESH:D014402
 alt_id: RDO:0001869
 xref: GARD:7830;   OMIM:PS191100
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tuberous sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068443
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 JBrowse link 16 68,954,860 68,968,248 RGD:1549429
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:11565117
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547829
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:1624196
RGD:8554872
RGD:11073512
RGD:11570511
RGD:11062248
RGD:11554173
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
RGD:11062248
RGD:11568672
RGD:11554173
tuberous sclerosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak8 adenylate kinase 8 JBrowse link 3 7,279,429 7,394,509 RGD:8554872
G Spaca9 sperm acrosome associated 9 JBrowse link 3 7,269,851 7,279,253 RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:7240710
RGD:8554872
RGD:11570507
tuberous sclerosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7240710
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Neurocutaneous Syndromes 65
        tuberous sclerosis 10
          Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
          Renal TSC2 Angiomyolipomas, Modifier of 0
          tuberous sclerosis 1 3
          tuberous sclerosis 2 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Genetic Skin Diseases 580
              ectodermal dysplasia 142
                Neurocutaneous Syndromes 65
                  tuberous sclerosis 10
                    Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
                    Renal TSC2 Angiomyolipomas, Modifier of 0
                    tuberous sclerosis 1 3
                    tuberous sclerosis 2 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.